Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nine patients with the Marfan syndrome and 40 of their first degree relatives were evaluated for the presence of cardiac, skeletal and ophthalmologic abnormalities. Aortic root dilatation and mitral valve prolapse were sought by echocardiography, and the metacarpal index was calculated from hand X-rays. Abnormalities of all the tests performed were present in all nine index cases, except for one normal eye exam. Mitral prolapse was present in thirteen relatives (33%) and aortic root dilatation in seven (18%). At least one cardiac abnormality was present in nineteen (47%) relatives. Aortic root dilatation was more common in male relatives; the incidence of mitral prolapse was approximately equal in the two sexes. Abnormal metacarpal index (greater than 8.0) occurred in fifteen of twenty-six relatives examined (58%). Ophthalmologic abnormalities were found in only four relatives. Two relatives had abnormalities of all three organ systems evaluated, five others had abnormalities of two systems, and fourteen had abnormalities of one system. We conclude that cardiac and skeletal abnormalities are demonstrable in a high percentage of first degree relatives of patients with the Marfan syndrome.
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PMID:Cardiac, skeletal and ophthalmologic abnormalities in relatives of patients with the Marfan syndrome. 13 15

The cross-sectional echocardiographic features of mitral valve prolapse were defined in 26 children (ages 2-18 years) using a real-time, multiple-crystal ultrasound scanner. In each patient the physical findings of the mitral valve click-murmur syndrome were present and mitral valve prolapse had been diagnosed previously by conventional single crystal echocardiography. Mitral prolapse occurred in a familial setting in eight patients and was associated with the Marfan syndrome in five. Real-time two-dimensional echocardiography uniformly disclosed maximum mitral arching and the superior-posterior prolapse. These visual observations were confirmed by M-mode recordings derived from single elements within the array of 20 crystals. The method allowed a complete M-mode description of the phasic motion of the entire mitral apparatus and observations of the spectrum of prolapse from discrete late systolic prolapse to "hammock-like" holosystolic prolapse. Further, the recording of multiple systolic M-mode lines occurred when the ultrasound beam intersected the arched leaflets more than once. Pseudosystolic anterior motion was observed often and resulted clearly from a superimposition of echoes from the mitral annulus and from the posterior-superiorly arched prolapsed leaflets. A major finding in 22 patients was the association with prolapse of biconvex enlargement of the aortic sinuses of Valsalva and a significant increase in the diameter of the aortic root. Aortic root dilatation was most marked in, but not confined to, patients with the Marfan syndrome and was a prominent finding in six patients with minor musculoskeletal abnormalities. The presence of aortic root dilatation in children with normal body habitus raises important questions concerning the generalized nature of an abnormality of cardiac connective tissue in patients with mitral prolapse. The cross-sectional approach significantly enhances the noninvasive evaluation of mitral valve prolapse and provides an explanation for many of the single crystal observations reported previously.
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PMID:Mitral valve prolapse in children: a problem defined by real-time cross-sectional echocardiography. 94 87

Echocardiographic and phonocardiographic findings in 35 patients with Marfan's Syndrome and ten patients without Marfan's or other clinically apparent connective tissue disorders but with angiographic and echocardiographic evidence of mitral prolapse are reported and compared. Echocardiography revealed aortic root dilatation and/or mitral valve prolapse in 97% of the patients with Marfan's Syndrome. Aortic root dilatation was found in 60% of this group (74% of males, 33% of females) while mitral valve prolapse was found in 91% (87% of males, 100% of females). The incidence of aortic dilatation and mitral prolapse in patients with Marfan's syndrome was essentially equal in children and adults of the same sex. None of the nine adults or one child with mitral prolapse but without evidence of Marfan's Syndrome or other clinically apparent connective tissue disorder had aortic root enlargement. Ausculatory examination and phnocardiography revealed abnormalities in 54% of the patients with Marfan's Syndrome. Aortic regurgitation was found in 23% of this group (35% of males, 0% of females) while mitral regurgitation and/or mitral clicks were found in 46% (39% of males, 58% of females). Aortic regurgitation was much more frequent in adult males with Marfan's Syndrome (7/14, 50%) than male children (1/9, 11%), while the incidence of abnormal mitral sounds was essentially the same in adults (33% of males, 60% of females) and children (43% of males, 57% of females) of the same sex with Marfan's Syndrome. Abnormal mitral sounds were more frequent in patients without Marfan's who had mitral prolapse (90%) than in those with Marfan's (46%). It appears that cardiac abnormalities are a consistent manifestation of Marfan's Syndrome and that ultrasound is a more sensitive indicator of these abnormalities in such patients than ausculation or phonocardiography.
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PMID:Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study. 115 78

The diameter of the aortic root was measured in 151 patients with small ventricular septal defect (Qp/Qs less than 2 and pulmonary vascular resistance less than 1.5 U.m-2) and correlated with the presence of absence of aortic regurgitation. In 26 cases the aortic juxtavalvular region (bulbus) was dilated above 2 SD compared to a control group. All patients with aortic regurgitation of with cusp prolapse belonged to this group of 26 cases. Aortic root dilatation seems to have a specificity of 89 p. 100, a sensitivity of 75 p. 100 and a negative predictive value of 98 p. 100 in relation to the occurrence of aortic insufficiency. The finding of an aortic root dilatation associated with a ventricular septal defect should incite to a closer supervision of non-operated patients should be used as an argument when discussing the surgical closure of the ventricular septal defect.
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PMID:[Dilation of the aortic root in ventricular septal defects. Risk factor of aortic insufficiency]. 250 Jan 4

Cardiovascular, skeletal and ophthalmologic manifestations of Marfan's syndrome were evaluated in 36 patients with Marfan's syndrome, including 22 females and 14 males whose ages ranged from 3 to 70 years. The patients complained mainly of palpitations and chest pain. Mitral clicks and/or systolic murmurs were heard in 31 patients (86%); skeletal findings were found in 35 patients (97%) and ECG T-wave changes in 11 (30%). Chest X-rays showed cardiac enlargement in six patients (17%) and dilatation of the aorta in two (6%). Holter monitoring performed in 21 patients showed only a few premature atrial and ventricular beats in 4, although prolapse of the mitral valve was found in 18 patients. Echocardiography revealed mitral valve prolapse in 32 patients (89%), 21 females (95% of females) and 11 males (79% of males). Aortic root dilatation was found in 19 patients (53%). 11 males (79% of males) and 8 females (36% of females). This study demonstrates the variable clinical expression of Marfan's syndrome and the importance of clinical and noninvasive methods, mainly echocardiography, for its evaluation.
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PMID:Cardiovascular, skeletal and ophthalmologic manifestations in patients with Marfan's syndrome. 272 73